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Article

A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report.

Medicine - 1 May 2018

Wang Jing, Zhu Qian, Liu Hongqian

Abstract excerpt

RATIONALE: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, which is inherited as an X-linked recessive trait. ATP binding cassette subfamily D member 1 (ABCD1) localized to Xq28 is the only gene associated with ALD. PATIENT CONCERNS: We report a case of Chinese boy with childhood cerebral ALD, who began experiencing symptoms at the age of 5 years and 2 months. Very long chain fatty...

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Source

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Identifiers

PMID: 29794777
DOI: 10.1097/MD.0000000000010837
PMCID: PMC6392892

Genes

ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report.PMID 29794777Read ↗

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